Variant report

Variant	esv1837373
Chromosome Location	chr3:22723578-22737463
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:22605258..22606015-chr3:22726589..22727722,7	MCF-7	breast:
2	chr3:22605202..22606238-chr3:22726881..22727802,6	MCF-7	breast:
3	chr3:22605347..22606025-chr3:22726006..22726863,2	MCF-7	breast:
4	chr3:22217113..22218017-chr3:22727091..22727719,2	MCF-7	breast:

Extended variants
information (count: 436 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:436 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566158367	chr3:22725209-22725210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373906280	chr3:22725211-22725212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs367769435	chr3:22725227-22725228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536393414	chr3:22725232-22725233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140468903	chr3:22725282-22725283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532017555	chr3:22725333-22725334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184211555	chr3:22725341-22725342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558844183	chr3:22725353-22725354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577319024	chr3:22725358-22725359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371715021	chr3:22725368-22725369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575476396	chr3:22725398-22725399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535229143	chr3:22725435-22725436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553331989	chr3:22725530-22725531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574469204	chr3:22725535-22725536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541972482	chr3:22725550-22725551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551804496	chr3:22725591-22725592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188663523	chr3:22725634-22725635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575325753	chr3:22725651-22725652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17011868	chr3:22725662-22725663	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs564416273	chr3:22725684-22725685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182088349	chr3:22725686-22725687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546770885	chr3:22725706-22725707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561764755	chr3:22725720-22725721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530196835	chr3:22725724-22725725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1524302	chr3:22725753-22725754	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569689145	chr3:22725802-22725803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76960869	chr3:22725803-22725804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146591278	chr3:22725875-22725876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140809015	chr3:22725897-22725898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140985765	chr3:22725899-22725900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553509173	chr3:22725924-22725925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568595088	chr3:22725934-22725935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544350930	chr3:22725982-22725983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4858439	chr3:22725997-22725998	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs115641714	chr3:22726045-22726046	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs533702280	chr3:22726048-22726049	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs565094150	chr3:22726052-22726053	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs150254548	chr3:22726056-22726057	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs377085122	chr3:22726058-22726059	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs573073290	chr3:22726060-22726061	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs4858047	chr3:22726063-22726064	Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs116447719	chr3:22726064-22726065	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs73821412	chr3:22726069-22726070	Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs372101752	chr3:22726078-22726079	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs560545589	chr3:22726148-22726149	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs112819252	chr3:22726163-22726164	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs566815535	chr3:22726173-22726174	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs376023258	chr3:22726218-22726219	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs191690900	chr3:22726219-22726220	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs4858048	chr3:22726281-22726282	Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22725200-22726000	Enhancers	Colon Smooth Muscle	Colon
2	chr3:22725600-22726000	Enhancers	Stomach Smooth Muscle	stomach
3	chr3:22725800-22727000	Enhancers	Fetal Stomach	stomach
4	chr3:22726000-22726400	Active TSS	Stomach Smooth Muscle	stomach
5	chr3:22726000-22726800	Flanking Active TSS	Colon Smooth Muscle	Colon
6	chr3:22726200-22726800	Enhancers	Fetal Lung	lung
7	chr3:22726200-22727200	Enhancers	Rectal Smooth Muscle	rectum
8	chr3:22726400-22726600	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr3:22726600-22727000	Enhancers	Stomach Smooth Muscle	stomach
10	chr3:22726800-22727400	Enhancers	Colon Smooth Muscle	Colon
11	chr3:22727200-22733000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr3:22727400-22733000	Weak transcription	Colon Smooth Muscle	Colon
13	chr3:22732200-22733600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:22732400-22733800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:22732400-22734000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr3:22732400-22734200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:22732400-22734600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr3:22732800-22733200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:22732800-22733200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:22732800-22733200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:22732800-22733200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr3:22732800-22733400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr3:22732800-22733600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr3:22732800-22734000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:22732800-22734600	Enhancers	Fetal Lung	lung
26	chr3:22733000-22733600	Enhancers	Fetal Stomach	stomach
27	chr3:22733000-22734200	Enhancers	Rectal Smooth Muscle	rectum
28	chr3:22733000-22734400	Enhancers	Colon Smooth Muscle	Colon
29	chr3:22733200-22733800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr3:22733600-22734400	Enhancers	Stomach Smooth Muscle	stomach

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